Neuregulin-ERBB signaling in the nervous system and neuropsychiatric diseases
Neuregulins (NRGs) comprise a large family of growth factors that stimulate ERBB receptor
tyrosine kinases. NRGs and their receptors, ERBBs, have been identified as susceptibility …
tyrosine kinases. NRGs and their receptors, ERBBs, have been identified as susceptibility …
Human copy number variation and complex genetic disease
S Girirajan, CD Campbell… - Annual review of genetics, 2011 - annualreviews.org
Copy number variants (CNVs) play an important role in human disease and population
diversity. Advancements in technology have allowed for the analysis of CNVs in thousands …
diversity. Advancements in technology have allowed for the analysis of CNVs in thousands …
A genome-wide scan for common alleles affecting risk for autism
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the
known genetic risk has been traced to rare variants, principally copy number variants …
known genetic risk has been traced to rare variants, principally copy number variants …
De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia
To evaluate evidence for de novo etiologies in schizophrenia, we sequenced at high
coverage the exomes of families recruited from two populations with distinct demographic …
coverage the exomes of families recruited from two populations with distinct demographic …
Exome sequencing supports a de novo mutational paradigm for schizophrenia
Despite its high heritability, a large fraction of individuals with schizophrenia do not have a
family history of the disease (sporadic cases). Here we examined the possibility that rare de …
family history of the disease (sporadic cases). Here we examined the possibility that rare de …
Convergent functional genomics of schizophrenia: from comprehensive understanding to genetic risk prediction
M Ayalew, H Le-Niculescu, DF Levey, N Jain… - Molecular …, 2012 - nature.com
We have used a translational convergent functional genomics (CFG) approach to identify
and prioritize genes involved in schizophrenia, by gene-level integration of genome-wide …
and prioritize genes involved in schizophrenia, by gene-level integration of genome-wide …
High frequencies of de novo CNVs in bipolar disorder and schizophrenia
D Malhotra, S McCarthy, JJ Michaelson, V Vacic… - Neuron, 2011 - cell.com
While it is known that rare copy-number variants (CNVs) contribute to risk for some
neuropsychiatric disorders, the role of CNVs in bipolar disorder is unclear. Here, we …
neuropsychiatric disorders, the role of CNVs in bipolar disorder is unclear. Here, we …
Microdeletion/microduplication of proximal 15q11. 2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language …
RD Burnside, R Pasion, FM Mikhail, AJ Carroll… - Human genetics, 2011 - Springer
The proximal long arm of chromosome 15 has segmental duplications located at
breakpoints BP1–BP5 that mediate the generation of NAHR-related microdeletions and …
breakpoints BP1–BP5 that mediate the generation of NAHR-related microdeletions and …
Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders
J Sebat, DL Levy, SE McCarthy - Trends in Genetics, 2009 - cell.com
Recent studies have established an important role for rare genomic deletions and
duplications in the etiology of schizophrenia. This research suggests that the genetic …
duplications in the etiology of schizophrenia. This research suggests that the genetic …
Rare deletions at 16p13. 11 predispose to a diverse spectrum of sporadic epilepsy syndromes
EL Heinzen, RA Radtke, TJ Urban, GL Cavalleri… - The American Journal of …, 2010 - cell.com
Deletions at 16p13. 11 are associated with schizophrenia, mental retardation, and most
recently idiopathic generalized epilepsy. To evaluate the role of 16p13. 11 deletions, as well …
recently idiopathic generalized epilepsy. To evaluate the role of 16p13. 11 deletions, as well …